A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East-Reference-Cited by-同舟云学术

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

Published:2019-03-21 Issue: Volume:7 Page:
ISSN:2296-2360
Container-title:Frontiers in Pediatrics
language:
Short-container-title:Front. Pediatr.

Author:

Najafi Maryam,Tamandani Dor Mohammad Kordi,Azarfar Anoush,Bakey Zeineb,Behjati Farkhondeh,Antony Dinu,Schüle Isabel,Sadeghi-Bojd Simin,Karimiani Ehsan Ghayoor,Schmidts Miriam

Funder

European Research Council

Deutsche Forschungsgemeinschaft

Publisher

Frontiers Media SA

Subject

Pediatrics, Perinatology and Child Health

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4. Linkage of the gene for cystinosis to markers on the short arm of chromosome 17;McDowell;Nat Genet.,1995

5. The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives;Cherqui;Nat Rev Nephrol.,2017

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